Evidence map›Paper›PMID 36613932›Full record

ArticleInternational journal of molecular sciences2022

A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without

Ana Paula Francese-Santos, Jakob A Meinel, Cristiane S C Piveta, Juliana G R Andrade, Beatriz A Barros, Helena Fabbri-Scallet, Vera Lúcia Gil-da-Silva-Lopes, Gil Guerra-Junior, Axel Künstner, Hauke Busch and 4 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.9field-weighted citation impact, top 21% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Expanding the phenotype of copy number variations involving NR0B1 (DAX1).European journal of human genetics : EJHG · 2024
    Article
  5. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 2 institutions in 2 countries.

Ana Paula Francese-SantosDepartment of Translational Medicine, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.
Jakob A MeinelDepartment of Pediatrics and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, University of Lübeck, 23562 Lübeck, Germany.
Cristiane S C PivetaMolecular Biology and Genetic Engineering Center, State University of Campinas (UNICAMP), Campinas 13083-875, SP, Brazil.
Juliana G R AndradeInterdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.
Beatriz A BarrosInterdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.
Helena Fabbri-ScalletMolecular Biology and Genetic Engineering Center, State University of Campinas (UNICAMP), Campinas 13083-875, SP, Brazil.
Vera Lúcia Gil-da-Silva-LopesDepartment of Translational Medicine, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.ORCID 0000-0003-1288-0554
Gil Guerra-JuniorInterdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.
Axel KünstnerGroup of Medical Systems Biology, Lübeck Institute of Experimental Dermatology, University of Lübeck, 23562 Lübeck, Germany.ORCID 0000-0003-0692-2105
Hauke BuschGroup of Medical Systems Biology, Lübeck Institute of Experimental Dermatology, University of Lübeck, 23562 Lübeck, Germany.ORCID 0000-0003-4763-4521
Olaf HiortDepartment of Pediatrics and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, University of Lübeck, 23562 Lübeck, Germany.
Maricilda P de MelloMolecular Biology and Genetic Engineering Center, State University of Campinas (UNICAMP), Campinas 13083-875, SP, Brazil.ORCID 0000-0003-0521-9100
Ralf WernerDepartment of Pediatrics and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, University of Lübeck, 23562 Lübeck, Germany.ORCID 0000-0003-3718-3595
Andréa T Maciel-GuerraDepartment of Translational Medicine, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.ORCID 0000-0002-4850-8079
Universidade Estadual de Campinas (UNICAMP) · BRUniversity of Lübeck · DE

Funding

Coordenação de Aperfeicoamento de Pessoal de Nível Superior 001São Paulo Research Foundation 2015/04763-4
6 · The paper itself

Abstract

A region of 160 kb at Xp21.2 has been defined as dosage-sensitive sex reversal (DSS) and includes the

Indexed as

Gonadal Dysgenesis, 46,XYDAX-1 Orphan Nuclear ReceptorFemaleHumansDAX-1 Orphan Nuclear ReceptorNR0B1 protein, human46,XY partial gonadal dysgenesischromosome microarray analysisdisorders of sex developmentNR0B1whole-genome sequencingXp21.2 duplication

Identifiers

PMID36613932
PMCPMC9820669
OpenAlexW4313225112

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.